| Primary Identifier | MGI:1889585 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 58198 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of ectoderm development; nephron epithelium morphogenesis; and nervous system development. Acts upstream of or within several processes, including kidney development; limb morphogenesis; and nervous system development. Located in heterochromatin and nucleus. Part of NuRD complex. Is expressed in several structures, including autopod; central nervous system; embryo mesenchyme; metanephros; and sensory organ. Used to study Townes-Brocks syndrome. Human ortholog(s) of this gene implicated in Townes-Brocks syndrome; middle lobe syndrome; and renal Wilms' tumor. Orthologous to human SALL1 (spalt like transcription factor 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
